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Aprataxin ELISA Kits (APTX)

On www.antibodies-online.com are 3 Aprataxin (APTX) ELISA Kits from 2 different suppliers available. Additionally we are shipping Aprataxin Antibodies (51) and Aprataxin Proteins (19) and many more products for this protein. A total of 78 Aprataxin products are currently listed.

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Human Aprataxin (APTX) interaction partners

Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4).

Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction. [review]

We describe an ataxia with oculomotor apraxia type 1 patient without a severe phenotype, who has a homozygous deletion of the complete coding region of APTX.

TDP1 (show TDP1 ELISA Kits) and APTX take part in the mitochondrial DNA repair and are apparently being transported from the cell nucleus. (Review)

The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits.

Aprataxin is required for the normal repair rate of DNA single-strand breaks induced by genotoxic agents.

The patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation(APTX) show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation.

Mouse (Murine) Aprataxin (APTX) interaction partners

Study demonstrates a protective role of Aptx in vivo and suggests that its loss results in progressive accumulation of DNA breaks in the nervous system, triggering hallmarks of premature ageing, systemically.

Aprataxin (APTX) Antigen Profile

Antigen Summary

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.